Linked Data
ClinVar Variation Id:
370619
ClinVar RCV Id:
RCV000412236
dbSNP Id:
rs1057516633
gnomAD v2:
8-100654333-C-T
gnomAD v4:
8-99642105-C-T
PubMed:
PMID:20683995
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99642105C>T , CM000670.2:g.99642105C>T | GRCh38 |
| NC_000008.10:g.100654333C>T , CM000670.1:g.100654333C>T | GRCh37 |
| NC_000008.9:g.100723509C>T | NCBI36 |
| NG_007098.2:g.633840C>T , LRG_351:g.633840C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682153.1:c.5590C>T | ENSP00000507923.1:p.Gln1864Ter | |
| ENST00000682358.1:n.5660C>T | ||
| ENST00000683334.1:c.*1272C>T | ENSP00000507369.1:n.*1272C>T | |
| ENST00000357162.7:c.5515C>T MANE Select | ENSP00000349685.2:p.Gln1839Ter | |
| ENST00000358544.7:c.5590C>T MANE Plus Clinical | ENSP00000351346.2:p.Gln1864Ter | |
| ENST00000357162.6:c.5515C>T | ENSP00000349685.2:p.Gln1839Ter | |
| ENST00000358544.6:c.5590C>T | ENSP00000351346.2:p.Gln1864Ter | |
| NM_017890.4:c.5590C>T , LRG_351t1:c.5590C>T | NP_060360.3:p.Gln1864Ter | |
| NM_152564.4:c.5515C>T , LRG_351t2:c.5515C>T | NP_689777.3:p.Gln1839Ter | |
| XM_005250800.2:c.5590C>T | XP_005250857.1:p.Gln1864Ter | |
| XM_005250801.3:c.5590C>T | XP_005250858.1:p.Gln1864Ter | |
| XM_011516848.1:c.5587C>T | XP_011515150.1:p.Gln1863Ter | |
| XM_011516849.1:c.5512C>T | XP_011515151.1:p.Gln1838Ter | |
| XM_011516850.1:c.5212C>T | XP_011515152.1:p.Gln1738Ter | |
| XM_011516851.1:c.2476C>T | XP_011515153.1:p.Gln826Ter | |
| XM_011516852.1:c.2476C>T | XP_011515154.1:p.Gln826Ter | |
| XM_011516853.1:c.5590C>T | XP_011515155.1:p.Gln1864Ter | |
| XM_011516854.1:c.1369C>T | XP_011515156.1:p.Gln457Ter | |
| XM_005250800.3:c.5590C>T | XP_005250857.1:p.Gln1864Ter | |
| XM_005250801.5:c.5590C>T | XP_005250858.1:p.Gln1864Ter | |
| XM_011516848.2:c.5587C>T | XP_011515150.1:p.Gln1863Ter | |
| XM_011516849.2:c.5512C>T | XP_011515151.1:p.Gln1838Ter | |
| XM_011516850.2:c.5212C>T | XP_011515152.1:p.Gln1738Ter | |
| XM_011516851.2:c.2476C>T | XP_011515153.1:p.Gln826Ter | |
| XM_011516852.2:c.2476C>T | XP_011515154.1:p.Gln826Ter | |
| XM_011516853.2:c.5590C>T | XP_011515155.1:p.Gln1864Ter | |
| XM_011516854.2:c.1369C>T | XP_011515156.1:p.Gln457Ter | |
| XM_017013109.1:c.5395C>T | XP_016868598.1:p.Gln1799Ter | |
| XM_017013111.1:c.2476C>T | XP_016868600.1:p.Gln826Ter | |
| XM_017013112.1:c.1147C>T | XP_016868601.1:p.Gln383Ter | |
| XM_024447074.1:c.4375C>T | XP_024302842.1:p.Gln1459Ter | |
| XR_001745482.2:n.5551C>T | ||
| NM_017890.5:c.5590C>T MANE Plus Clinical | NP_060360.3:p.Gln1864Ter | |
| NM_152564.5:c.5515C>T MANE Select | NP_689777.3:p.Gln1839Ter |